Incidental Mutation 'R6236:Pcdhgb4'
ID 504970
Institutional Source Beutler Lab
Gene Symbol Pcdhgb4
Ensembl Gene ENSMUSG00000103585
Gene Name protocadherin gamma subfamily B, 4
Synonyms
MMRRC Submission 044400-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6236 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37853429-37974923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37854345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 247 (Y247H)
Ref Sequence ENSEMBL: ENSMUSP00000142227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000195363] [ENSMUST00000195112] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000195823] [ENSMUST00000194544]
AlphaFold Q91XX6
Predicted Effect probably benign
Transcript: ENSMUST00000066149
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 31 131 4.84e-2 SMART
CA 155 240 1.48e-22 SMART
CA 264 345 1.14e-23 SMART
CA 369 450 9.44e-21 SMART
CA 474 560 1.03e-26 SMART
CA 591 669 3.64e-13 SMART
Pfam:Cadherin_C_2 688 772 3e-25 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073447
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 42 128 2.15e-2 SMART
CA 152 237 4.8e-13 SMART
CA 261 342 9.36e-25 SMART
CA 366 447 6.62e-25 SMART
CA 471 557 6.72e-26 SMART
CA 588 666 2.15e-15 SMART
Pfam:Cadherin_C_2 685 768 4.8e-24 PFAM
Pfam:Cadherin_tail 805 928 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192511
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472

DomainStartEndE-ValueType
CA 47 133 1.57e-2 SMART
CA 157 242 3.24e-19 SMART
CA 266 347 3.21e-23 SMART
CA 371 452 9.08e-23 SMART
CA 476 562 1.32e-24 SMART
CA 593 671 3.5e-15 SMART
transmembrane domain 694 716 N/A INTRINSIC
low complexity region 916 935 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192931
SMART Domains Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

DomainStartEndE-ValueType
CA 36 119 8e-3 SMART
CA 143 228 1.34e-20 SMART
CA 252 333 1.52e-24 SMART
CA 357 438 9.22e-24 SMART
CA 462 548 1.24e-24 SMART
CA 579 660 1.3e-9 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193414
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

DomainStartEndE-ValueType
CA 45 131 2.45e-1 SMART
CA 155 240 1.05e-18 SMART
CA 264 345 6.52e-24 SMART
CA 369 450 5.99e-23 SMART
CA 474 560 6.99e-24 SMART
CA 591 669 5.31e-15 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193476
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 47 133 7.6e-5 SMART
CA 157 242 1.6e-21 SMART
CA 266 347 1.6e-25 SMART
CA 371 452 4.5e-25 SMART
CA 476 562 6.6e-27 SMART
CA 593 671 1.7e-17 SMART
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000195363
AA Change: Y247H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: Y247H

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 1.47e-2 SMART
CA 155 240 1.23e-19 SMART
CA 264 343 5.54e-27 SMART
CA 367 448 5.09e-26 SMART
CA 472 558 1.98e-23 SMART
CA 589 670 1.3e-9 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 893 912 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195069
Predicted Effect probably benign
Transcript: ENSMUST00000195112
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

DomainStartEndE-ValueType
CA 24 130 8.18e-3 SMART
CA 154 239 1.39e-18 SMART
CA 263 344 7.91e-23 SMART
CA 368 449 2.27e-23 SMART
CA 473 559 1.24e-24 SMART
CA 590 671 1.3e-9 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 909 928 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193869
SMART Domains Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 45 131 1.64e-2 SMART
CA 155 240 6.42e-23 SMART
CA 264 345 1.76e-20 SMART
CA 369 450 2.27e-23 SMART
CA 474 560 1.5e-23 SMART
CA 591 669 1.17e-16 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194190
SMART Domains Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 31 131 3.16e-2 SMART
CA 155 240 5.39e-16 SMART
CA 264 345 6.72e-26 SMART
CA 369 450 1.32e-24 SMART
CA 474 560 4.17e-22 SMART
CA 591 669 4.48e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194418
SMART Domains Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

DomainStartEndE-ValueType
CA 44 130 1.64e-2 SMART
CA 154 239 3.93e-18 SMART
CA 263 344 5.22e-23 SMART
CA 368 449 5.02e-25 SMART
CA 473 559 2.07e-26 SMART
CA 590 668 6.84e-18 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193815
Predicted Effect probably benign
Transcript: ENSMUST00000195823
SMART Domains Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
CA 45 131 2.41e-2 SMART
CA 155 240 5.77e-16 SMART
CA 264 345 1.1e-21 SMART
CA 369 450 2.75e-22 SMART
low complexity region 453 462 N/A INTRINSIC
CA 474 560 9.22e-24 SMART
CA 591 669 2.4e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Meta Mutation Damage Score 0.4146 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,989,664 (GRCm39) T703A possibly damaging Het
Acd C T 8: 106,427,127 (GRCm39) A49T probably benign Het
Acer1 T A 17: 57,262,231 (GRCm39) I224F probably benign Het
Acvr1 T C 2: 58,367,678 (GRCm39) D161G probably benign Het
Catsper4 T C 4: 133,948,887 (GRCm39) I111V probably benign Het
Cfap210 A C 2: 69,588,385 (GRCm39) probably null Het
Chst14 T A 2: 118,757,997 (GRCm39) C264S probably damaging Het
Clnk T C 5: 38,870,542 (GRCm39) T339A probably benign Het
Cnot4 T C 6: 35,045,608 (GRCm39) K201R probably benign Het
Col19a1 A G 1: 24,319,030 (GRCm39) V1020A probably damaging Het
Cts6 C A 13: 61,344,192 (GRCm39) E287* probably null Het
Dbf4 T C 5: 8,448,579 (GRCm39) probably benign Het
Diaph3 G A 14: 87,275,004 (GRCm39) R140* probably null Het
Faah T C 4: 115,856,786 (GRCm39) I459V probably benign Het
Fbxw2 A T 2: 34,712,845 (GRCm39) L72H probably damaging Het
Fstl4 G A 11: 53,077,162 (GRCm39) G640S probably benign Het
Gabrb1 C T 5: 72,265,663 (GRCm39) T186M probably damaging Het
Gata2 T C 6: 88,179,548 (GRCm39) probably null Het
Ifi203 A G 1: 173,761,479 (GRCm39) V190A probably benign Het
Kdm3a T C 6: 71,588,641 (GRCm39) E456G probably benign Het
Kl A T 5: 150,876,755 (GRCm39) T192S probably damaging Het
Klhl3 G A 13: 58,232,876 (GRCm39) A77V probably damaging Het
Klri2 A G 6: 129,715,858 (GRCm39) F114L probably benign Het
Lonp2 A T 8: 87,363,215 (GRCm39) R278* probably null Het
Lrp5 A T 19: 3,680,483 (GRCm39) probably null Het
Med13 T A 11: 86,219,357 (GRCm39) H363L probably damaging Het
Metap1d T G 2: 71,346,022 (GRCm39) F194L probably benign Het
Misp A G 10: 79,662,956 (GRCm39) K458E probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myh2 A G 11: 67,081,157 (GRCm39) T1258A probably benign Het
Nipbl T A 15: 8,354,064 (GRCm39) D1691V possibly damaging Het
Nr1i2 C T 16: 38,086,300 (GRCm39) C55Y probably damaging Het
Or11h7 T C 14: 50,891,257 (GRCm39) S188P probably damaging Het
Or7g21 A T 9: 19,032,409 (GRCm39) I50F possibly damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Ric1 T A 19: 29,572,826 (GRCm39) D755E possibly damaging Het
Sez6l G T 5: 112,623,110 (GRCm39) T147K possibly damaging Het
Ski A G 4: 155,244,001 (GRCm39) F451S probably benign Het
Slc45a2 C T 15: 11,022,158 (GRCm39) T300I probably benign Het
Smarca2 T C 19: 26,673,613 (GRCm39) V1050A probably benign Het
Spag1 T C 15: 36,211,281 (GRCm39) S476P probably damaging Het
Sptbn2 T A 19: 4,798,166 (GRCm39) S1964T probably benign Het
Sucla2 T A 14: 73,831,190 (GRCm39) D434E probably benign Het
Tbl3 G A 17: 24,919,717 (GRCm39) T779I probably benign Het
Tlr2 T A 3: 83,745,438 (GRCm39) E215V probably benign Het
Tomm40 G A 7: 19,437,281 (GRCm39) P227S probably benign Het
Tpp2 T A 1: 44,016,477 (GRCm39) S711T probably benign Het
Traj32 T A 14: 54,423,565 (GRCm39) Y2* probably null Het
Trim34b A G 7: 103,985,525 (GRCm39) R387G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp5 T C 6: 124,795,441 (GRCm39) T651A probably benign Het
Vmn1r188 T C 13: 22,272,414 (GRCm39) S123P probably damaging Het
Zdhhc14 T C 17: 5,543,918 (GRCm39) L66P probably damaging Het
Zfp712 C T 13: 67,188,685 (GRCm39) C614Y probably damaging Het
Zfp827 A G 8: 79,797,105 (GRCm39) K397R probably damaging Het
Other mutations in Pcdhgb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5602:Pcdhgb4 UTSW 18 37,854,697 (GRCm39) missense probably damaging 0.97
R6326:Pcdhgb4 UTSW 18 37,855,509 (GRCm39) missense probably benign 0.40
R6425:Pcdhgb4 UTSW 18 37,854,640 (GRCm39) missense possibly damaging 0.69
R6619:Pcdhgb4 UTSW 18 37,854,737 (GRCm39) missense probably damaging 1.00
R6749:Pcdhgb4 UTSW 18 37,854,282 (GRCm39) missense possibly damaging 0.52
R6752:Pcdhgb4 UTSW 18 37,853,704 (GRCm39) missense probably damaging 0.99
R7027:Pcdhgb4 UTSW 18 37,854,415 (GRCm39) missense probably damaging 1.00
R7145:Pcdhgb4 UTSW 18 37,854,843 (GRCm39) missense probably benign 0.00
R7158:Pcdhgb4 UTSW 18 37,853,938 (GRCm39) missense probably damaging 1.00
R7389:Pcdhgb4 UTSW 18 37,855,416 (GRCm39) missense probably damaging 1.00
R7524:Pcdhgb4 UTSW 18 37,854,661 (GRCm39) missense probably benign 0.02
R7557:Pcdhgb4 UTSW 18 37,855,847 (GRCm39) nonsense probably null
R7943:Pcdhgb4 UTSW 18 37,855,063 (GRCm39) missense probably benign 0.01
R8142:Pcdhgb4 UTSW 18 37,854,166 (GRCm39) missense probably damaging 0.98
R8717:Pcdhgb4 UTSW 18 37,853,847 (GRCm39) missense probably benign 0.06
R8779:Pcdhgb4 UTSW 18 37,854,835 (GRCm39) missense probably damaging 1.00
R8918:Pcdhgb4 UTSW 18 37,855,648 (GRCm39) missense probably damaging 0.99
R9153:Pcdhgb4 UTSW 18 37,854,131 (GRCm39) missense possibly damaging 0.94
R9296:Pcdhgb4 UTSW 18 37,853,777 (GRCm39) missense probably benign 0.03
R9491:Pcdhgb4 UTSW 18 37,854,895 (GRCm39) missense probably damaging 1.00
R9526:Pcdhgb4 UTSW 18 37,855,882 (GRCm39) missense probably benign 0.19
RF015:Pcdhgb4 UTSW 18 37,854,855 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhgb4 UTSW 18 37,854,394 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTACCAGCTTAGTCCCAATGATC -3'
(R):5'- TGCAGAGTTGTAATTTCTCCGG -3'

Sequencing Primer
(F):5'- AGTCCCAATGATCATTTTTCACTGG -3'
(R):5'- TTTCTCCGGTATTAGAATCCAGG -3'
Posted On 2018-02-28